A Case of Type Ia Glycogen Storage Disease Diagnosed in the Military Hospital

We report here on a case of genetically confirmed type Ia glycogen storage disease (GSD) that was diagnosed in the military hospital. A twenty-year old soldier was admitted to the hospital with abdominal fullness. He had a past medical history of hepatomegaly that was firstly recognized at six months after birth, and he had been followed-up at an outpatient clinic with the presumptive diagnosis of type III GSD. He also had a history of growth hormone therapy because of growth retardation. However, he arbitrarily refused medical observation from 14 years of age. On the physical examination, the height of the patient was 163.1 cm and significant hepatomegaly was observed. Significantly abnormal liver-associated paramters were observed on the laboratory findings and multiple hepatic adenomas were observed on the CT exam and MRI scan. To determine the proper treatment, we tried to confirm the exact type of GSD in the patient. By mutational analysis, we found the c.648G>T homozygote splicing mutation in the G6PC gene and the patient was confirmed as having the type Ia GSD.

A Case of Klinefelter Syndrome Differentially Diagnosed as a Cause of Gigantism / 대한내과학회지

Klinefelter syndrome is a congenital disease that is associated with the existence of an extra X chromosome, and is one of the most common causes of male primary hypogonadism. In addition to hypogonadism-associated manifestations such as testicular atrophy and infertility, it is also well known that this syndrome may be associated with other systemic comorbidities. In this report, we describe a typical case of Klinefelter syndrome that was differentially diagnosed as a cause of gigantism. A 20-year-old male was admitted to evaluate the cause of tall stature. His height was 193.4 cm, and all screening tests for gigantism were negative. Physical examination revealed no clear evidence of secondary sexual characteristics, and the results of a hormonal assay were highly suspicious for primary hypogonadism. Based on these findings, we performed a chromosomal analysis and confirmed Klinefelter syndrome with a 47, XXY karyotype.

Cytogenetics and Genetic Counseling of Patients in North India

This brief write-up is with reference to our 1-year (May 2003- May 2004) experience at the Department of Molecular Biology and Immunology at Indraprastha Apollo Hospitals, New Delhi. Cytogenetics of 60 patients with amenorrhoea, recurrent abortions, infertility, monosomy X, chromosome mosaics, pseudohermaphoditism and Downs syndrome was carried out. The importance of chromosome studies followed by genetic counseling is stressed in this present paper.

Cytogenetics of genetic counseling patients in Pelotas, Rio Grande do Sul, Brazil

From 1986 to 2002, we examined the chromosomal composition of 916 patients attended by two genetic counseling services in the city of Pelotas, in the Brazilian State of Rio Grande do Sul, to determine the genetic causes of their disturbances. Patterns of G-banding using trypsin and Giemsa (GTG) and C-banding using barium and Giemsa (CBG) were studied using phytohemagglutinin M-stimulated lymphocytes cultured from peripheral blood. Among the patients, 110 had Down's syndrome, 7 had Edward's syndrome, 4 had Patau's syndrome, 29 had Turner's syndrome, 5 had Klinefelter's syndrome, and 3 had [quot ]cri-du-chat[quot ] syndrome. Abnormal chromosomes were observed in 29.3% of the patients. Most of these (56.3%) were numerical abnormalities, with the remaining being structural variants.